title: Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
abstract: Two new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 24 year old man, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mutations showed a deletion of exons 48-49 in the patient with familial DC and of exons 49-51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses.
authors.affiliation: Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK. fmuntoni@rpms.ac.uk
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: A
authors.initials: A
authors.lastname: Di Lenarda
authors.forename: M
authors.initials: M
authors.lastname: Porcu
authors.forename: G
authors.initials: G
authors.lastname: Sinagra
authors.forename: A
authors.initials: A
authors.lastname: Mateddu
authors.forename: G
authors.initials: G
authors.lastname: Marrosu
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
authors.forename: M
authors.initials: M
authors.lastname: Cau
authors.forename: J
authors.initials: J
authors.lastname: Milasin
authors.forename: M A
authors.initials: MA
authors.lastname: Melis
authors.forename: M G
authors.initials: MG
authors.lastname: Marrosu
authors.forename: C
authors.initials: C
authors.lastname: Cianchetti
authors.forename: A
authors.initials: A
authors.lastname: Sanna
authors.forename: A
authors.initials: A
authors.lastname: Falaschi
authors.forename: F
authors.initials: F
authors.lastname: Camerini
authors.forename: M
authors.initials: M
authors.lastname: Giacca
authors.forename: L
authors.initials: L
authors.lastname: Mestroni
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000378:metabolism; D016189:Dystrophin / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000737:chemistry; D009206:Myocardium / Q000737:chemistry; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D016189:Dystrophin